Privacy Policies

Support CAG

Pediatric Cancer

Psychiatric Disorders

Rare Disease Program

FAQs

Don't see your question? Send us an This email address is being protected from spambots. You need JavaScript enabled to view it..

What is the purpose of the study?

The Center of Applied Genomics aims to collect blood samples from more than 100,000 children. The children who take part in the study are joining an effort to better understand the causes of complex pediatric disorders. By comparing children who have medical conditions with those who don’t, the Center may be able to determine which genes are responsible for these conditions and begin working on new treatment approaches. The Center will also search for genes that determine which drugs are most likely to work for an individual patient in order optimize the benefits and minimize any side effects from the drugs.

What is involved in giving a DNA sample?

Human DNA is organized in pieces called genes that provide the instructions needed to make our bodies work. There are over 10 million known ways that human DNA can vary from one person to another. Through this study, we hope to learn about the genetic causes of common disorders and how people vary in terms of their genes.

If you agree to provide a DNA sample, the process will take 15 to 30 minutes. We will take a blood sample, ask you a few short questions about your health and review your medical records. With your permission, we will get updated information from your medical records. If you are willing, we would also like to take blood specimens from one or both parents.

Who can take part in the study?

Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part. We will also approach patients who attend the various specialty clinics at CHOP and/or the satellite clinics and recruit subjects in their homes during a visit by a member of the research study team. We are also recruiting at community outreach programs sponsored by CHOP affiliated physicians. Children need the permission of their parents to take part in the study.

What would I need to do?

You would need to let study staff collect a one teaspoon-sized blood sample from your child. Whenever possible, this sample will be taken at the same time as a scheduled blood test for routine purposes — so it will not require another needle stick. Parents who decide to take part would need to let study staff collect one blood sample from them as well. You would also need to answer a few questions and sign a written consent form. When you sign the consent form you are giving the study staff permission to access your child’s medical records and store them in a way that does not include any personal information.

How long does the study last?

Taking part in the study requires 15 to 30 minutes. With your permission, the researchers will get updated information from your child’s medical records once a year.

Will my child be asked to come back for more tests?

After giving a blood sample, there are no more study-related activities and no one will contact you or your family for more information unless you give a permission to do so by checking a special box on the informed consent form.

What will CHOP do with my DNA?

Our computer system will match your blood specimen with information from your medical records in a way that no one will be able to identify. It will not be possible to destroy your specimens. This is because our computer security system will not allow researchers to know which specimen is yours.
Your DNA will be given a unique code that will include no information that can identify you. It will be stored in a secure place in a laboratory in CHOP's Abramson Research Center.
If you give us permission to update your records or contact you in the future, information that can identify you will be kept permanently in a specially secured computer database at CHOP. If you do not give us permission for this part of the study, then information that identifies you will be deleted immediately from the research database.

Are there any risks involved?

Taking part in any research study involves risks or side-effects and inconveniences. You can talk to your study doctor or your regular doctor about these risks:

Blood work: Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Risks to personal privacy and confidentiality: Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be strictly confidential and only coded numbers will be used to identify specimens and research records. Because of the systems in place to protect you, it will not be possible to share the results of the blood tests with you, your doctors or anyone else. The computerized system (encryption system) that assigns the coded numbers will not allow anyone to identify specific participant information. If there is a scientific question that could be answered by more information from you, the computer system has a special key that will let us contact you – but only if you allow it.

Are there any benefits to taking part?

Although there will be no benefits to you from this study, we hope that the knowledge gained from this study may help us better understand the causes of childhood diseases and conditions. It may allow us to develop better ways to diagnose diseases and to develop new and better medicines to treat diseases in the future.

What happens if I decide not to take part?

Participation in this study is voluntary; you do not have to take part in order to receive care at CHOP. Your current and future medical care at CHOP will not be affected if you decide not to participate.

Do I need to give my consent in order to participate?

Once you understand the study, you will be asked to decide if you wish to participate. If you wish to participate in this study, you must sign a form. A signed copy will be given to you to keep as a record. Even if you agree to participate, you can change your mind at any time. Your current and future medical care at CHOP will not be affected if you decide to withdraw from the study.

What about privacy and confidentiality?

We need to collect health information about you in order to conduct this study. We will do our best to keep your personal information private and confidential. However, we cannot guarantee absolute confidentiality. Your personal information may be disclosed if required by law.

The results of this study may be shown at meetings or published in journals to inform other doctors and health professionals. We will keep your identity private in any publication or presentation about the study. Researchers may collect information about you, your child, or your parent from medical records and from asking a few questions. People and organizations that may inspect and/or copy your research records to conduct this research, assure the quality of the data and to analyze the data include:

Member of the research team here are CHOP

People who oversee or evaluate research and care activities at CHOP

People from agencies and organizations that perform independent accreditation and oversight of research

The Food and Drug Administration

Will there be any costs to me?

There are no additional costs to you or your insurance.

Can my child be taken out of the study if I change my mind?

Yes. Even if you agree to let your child take part in the study, you can change your mind at any time. Your child’s current and future medical care will not be affected if you decide not to take part.

What do I do if I have questions or want more information?

If you have questions about the study, you may call The Center for Applied Genomics Hotline at 1-866-912-CHOP (2467) or This email address is being protected from spambots. You need JavaScript enabled to view it.. You may also talk to your own doctor if you have questions or concerns.